Health Problems in Adults with Prader-Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature.

G W Rosenberg, Anna; M Wellink, Charlotte; M Tellez Garcia, Juan; Pellikaan, Karlijn; H Van Abswoude, Denise; Davidse, Kirsten; J C M Van Zutven, Laura; T Brüggenwirth, Hennie; L Resnick, James; J Van der Lely, Aart; C G De Graaff, Laura

doi:10.3390/jcm11144033

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Health Problems in Adults with Prader-Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature.

Shared by NobleBlocks on Jul 12, 2022 • 12:00 AM UTC

Authors:

Anna G W Rosenberg

Charlotte M Wellink

Juan M Tellez Garcia

Abstract

Prader−Willi syndrome (PWS) is a complex, rare genetic disorder caused by a loss of expression of paternally expressed genes on chromosome 15q11.2-q13. The most common underlying genotypes are paternal deletion (DEL) and maternal uniparental disomy (mUPD). DELs can be subdivided into type 1 (DEL-1) ...

Subject

Prader–Willi syndrome

genetic variation

genetics

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